F30L (p.Phe30Leu) variant of G6PC1 (P35575)
F30L (p.Phe30Leu) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
F30L (p.Phe30Leu) variant details
- p.Phe30Leu
- gnomAD 17-42900966-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.61
- MetaLR 0.46
- MetaSVM -0.29
- CADD 22.90
- PolyPhen-2 0.98
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available